Conditions

The NBS programme screens for 9 conditions. Each condition is chosen on the basis that the benefits of screening outweigh the risks. Currently those conditions are:

sickle cell disease (SCD)

cystic fibrosis (CF)

congenital hypothyroidism (CHT)

inherited metabolic diseases (IMDs). These are genetic diseases that affect the metabolism.

phenylketonuria (PKU)

medium-chain acyl-CoA dehydrogenase deficiency (MCADD)

maple syrup urine disease (MSUD)

isovaleric acidaemia (IVA)

glutaric aciduria type 1 (GA1)

homocystinuria (HCU)

Parents and health care professionals may find the condition leaflets helpful to understand these rare conditions. Parents can opt out of screening for the conditions, however parents can only opt out of IMDs as a group and not by each condition.

Consent

Parents must verbally agree to the NBS test. This consent must be noted by the health professional in the baby’s child health record.

A code of practice sets out arrangements for the retention, storage and potential use of residual NBS screening samples.

These samples may be used for anonymous public health monitoring and research. Occasionally, researchers may contact parents to ask for their permission to use the sample in a way that identifes their child. Parents can withdraw consent to future contact about identifiable research but not anonymous research.